Yonsei Med J.  2015 Mar;56(2):440-446. 10.3349/ymj.2015.56.2.440.

Dermatofibrosarcoma Protuberans: A Study of Clinical, Pathologic, Genetic, and Therapeutic Features in Korean Patients

Affiliations
  • 1Department of Dermatology, Severance Hospital, Seoul, Korea.
  • 2Department of Dermatology, Gangnam Severance Hospital, Seoul, Korea. karenroh@yuhs.ac
  • 3Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.
  • 4Department of Dermatology, Yanbian University Hospital, Yanbian, China.

Abstract

PURPOSE
Dermatofibrosarcoma protuberans (DFSP) carries a translocation resulting in the collagen type I alpha 1 (COL1A1)-platelet-derived growth factor beta (PDGFB) fusion gene, which is responsible for PDGFB activation. The purpose of this study is to evaluate the clinicopathological, genetic, and therapeutic features of DFSP in Korean patients.
MATERIALS AND METHODS
Clinicopathological features of 37 patients with DFSP were reviewed. Multiplex reverse transcriptase-polymerase chain reaction (PCR) was carried out in 16 patients using formalin-fixed, paraffin-embedded tissues and specific primers for COL1A1 and PDGFB.
RESULTS
The mean age of 37 patients was 37.4 years old. The most common tumor location was the trunk. All patients were treated primarily with surgery: 34 (91.7%) cases with Mohs micrographic surgery (MMS) and 3 (8.3%) cases with wide local excision. The median follow-up time was 33.7 months. Two patients, one in each treatment group, demonstrated local recurrence during the follow-up period. The COL1A1-PDGFB fusion gene was expressed in 14 (87.5%) cases, demonstrated by reverse transcriptase PCR analysis. No association was found among the different COL1A1-PDGFB fusion transcripts, the various histological subtypes and clinical features.
CONCLUSION
Our results support the effectiveness of MMS in treating DFSP. The COL1A1-PDGFB fusion transcript was observed in 87.5% of patients. Therefore, COL1A1-PDGFB is a useful and accurate tool in diagnosing DFSP in Koreans.

Keyword

Dermatofibrosarcoma protuberans; collagen type I alpha 1-platelet-derived growth factor beta; histological subtype; Mohs micrographic surgery

MeSH Terms

Adolescent
Adult
Asian Continental Ancestry Group/*genetics
Collagen Type I/*genetics
DNA Primers
Dermatofibrosarcoma/ethnology/*genetics/*pathology/surgery
Female
Humans
Male
Middle Aged
Mohs Surgery
Multiplex Polymerase Chain Reaction
Neoplasm Recurrence, Local
Oncogene Proteins, Fusion/*genetics
Proto-Oncogene Proteins c-sis/*genetics
Republic of Korea
Reverse Transcriptase Polymerase Chain Reaction
Skin Neoplasms/ethnology/*genetics/*pathology/surgery
Treatment Outcome
Collagen Type I
DNA Primers
Oncogene Proteins, Fusion
Proto-Oncogene Proteins c-sis

Figure

  • Fig. 1 (A) Schematic presentation of variable positions of collagen type I alpha 1 (COL1A1) breakpoints in the COL1A1-platelet-derived growth factor beta (PDGFB) fusion gene. (B) Some examples of the COL1A1-PDGFB fusion transcript. DFSP, dermatofibrosarcoma protuberans; DFSP-FS, dermatofibrosarcoma protuberans-fibrosarcomatous variant.


Reference

1. Schiff BL, Tye MJ, Kern AB, Moretti G, Ronchese F. Dermatofibrosarcoma protuberans. Review of the literature and report of four cases. Am J Surg. 1960; 99:301–306.
2. Bowne WB, Antonescu CR, Leung DH, Katz SC, Hawkins WG, Woodruff JM, et al. Dermatofibrosarcoma protuberans: a clinicopathologic analysis of patients treated and followed at a single institution. Cancer. 2000; 88:2711–2720.
3. Rutgers EJ, Kroon BB, Albus-Lutter CE, Gortzak E. Dermatofibrosarcoma protuberans: treatment and prognosis. Eur J Surg Oncol. 1992; 18:241–248.
4. Lemm D, Mügge LO, Mentzel T, Höffken K. Current treatment options in dermatofibrosarcoma protuberans. J Cancer Res Clin Oncol. 2009; 135:653–665.
Article
5. DuBay D, Cimmino V, Lowe L, Johnson TM, Sondak VK. Low recurrence rate after surgery for dermatofibrosarcoma protuberans: a multidisciplinary approach from a single institution. Cancer. 2004; 100:1008–1016.
Article
6. Fiore M, Miceli R, Mussi C, Lo Vullo S, Mariani L, Lozza L, et al. Dermatofibrosarcoma protuberans treated at a single institution: a surgical disease with a high cure rate. J Clin Oncol. 2005; 23:7669–7675.
Article
7. Paradisi A, Abeni D, Rusciani A, Cigna E, Wolter M, Scuderi N, et al. Dermatofibrosarcoma protuberans: wide local excision vs. Mohs micrographic surgery. Cancer Treat Rev. 2008; 34:728–736.
Article
8. Roh MR, Bae B, Chung KY. Mohs' micrographic surgery for dermatofibrosarcoma protuberans. Clin Exp Dermatol. 2010; 35:849–852.
Article
9. Rubin BP, Schuetze SM, Eary JF, Norwood TH, Mirza S, Conrad EU, et al. Molecular targeting of platelet-derived growth factor B by imatinib mesylate in a patient with metastatic dermatofibrosarcoma protuberans. J Clin Oncol. 2002; 20:3586–3591.
Article
10. Greco A, Fusetti L, Villa R, Sozzi G, Minoletti F, Mauri P, et al. Transforming activity of the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b-chain gene in dermatofibrosarcoma protuberans. Oncogene. 1998; 17:1313–1319.
Article
11. Jeon IK, Kim JH, Kim SE, Kim SC, Roh MR. Successful treatment of unresectable dermatofibrosarcoma protuberans on finger with imatinib mesylate and Mohs microsurgery. J Dermatol. 2013; 40:288–289.
Article
12. Mentzel T, Beham A, Katenkamp D, Dei Tos AP, Fletcher CD. Fibrosarcomatous ("high-grade") dermatofibrosarcoma protuberans: clinicopathologic and immunohistochemical study of a series of 41 cases with emphasis on prognostic significance. Am J Surg Pathol. 1998; 22:576–587.
13. Tan AW, Tan SH. Dermatofibrosarcoma protuberans: a clinicopathological analysis of 10 cases in Asians. Australas J Dermatol. 2004; 45:29–33.
Article
14. Muchemwa FC, Wakasugi S, Honda Y, Ihn H. PDGFB quantification is a useful tool in the diagnosis of dermatofibrosarcoma protuberans: a study of 10 cases. Clin Exp Dermatol. 2010; 35:295–299.
Article
15. Kim M, Huh CH, Cho KH, Cho S. A study on the prognostic value of clinical and surgical features of dermatofibrosarcoma protuberans in Korean patients. J Eur Acad Dermatol Venereol. 2012; 26:964–971.
Article
16. Chuang TY, Su WP, Muller SA. Incidence of cutaneous T cell lymphoma and other rare skin cancers in a defined population. J Am Acad Dermatol. 1990; 23(2 Pt 1):254–256.
Article
17. Abbott JJ, Oliveira AM, Nascimento AG. The prognostic significance of fibrosarcomatous transformation in dermatofibrosarcoma protuberans. Am J Surg Pathol. 2006; 30:436–443.
Article
18. Goldblum JR, Reith JD, Weiss SW. Sarcomas arising in dermatofibrosarcoma protuberans: a reappraisal of biologic behavior in eighteen cases treated by wide local excision with extended clinical follow up. Am J Surg Pathol. 2000; 24:1125–1130.
19. Llombart B, Sanmartín O, López-Guerrero JA, Monteagudo C, Serra C, Requena C, et al. Dermatofibrosarcoma protuberans: clinical, pathological, and genetic (COL1A1-PDGFB) study with therapeutic implications. Histopathology. 2009; 54:860–872.
Article
20. Bridge JA, Neff JR, Sandberg AA. Cytogenetic analysis of dermatofibrosarcoma protuberans. Cancer Genet Cytogenet. 1990; 49:199–202.
Article
21. Takahira T, Oda Y, Tamiya S, Higaki K, Yamamoto H, Kobayashi C, et al. Detection of COL1A1-PDGFB fusion transcripts and PDGFB/PDGFRB mRNA expression in dermatofibrosarcoma protuberans. Mod Pathol. 2007; 20:668–675.
Article
22. Kérob D, Porcher R, Vérola O, Dalle S, Maubec E, Aubin F, et al. Imatinib mesylate as a preoperative therapy in dermatofibrosarcoma: results of a multicenter phase II study on 25 patients. Clin Cancer Res. 2010; 16:3288–3295.
Article
23. Ratner D, Thomas CO, Johnson TM, Sondak VK, Hamilton TA, Nelson BR, et al. Mohs micrographic surgery for the treatment of dermatofibrosarcoma protuberans. Results of a multiinstitutional series with an analysis of the extent of microscopic spread. J Am Acad Dermatol. 1997; 37:600–613.
Article
24. Gloster HM Jr. Dermatofibrosarcoma protuberans. J Am Acad Dermatol. 1996; 35(3 Pt 1):355–374.
Article
25. Snow SN, Gordon EM, Larson PO, Bagheri MM, Bentz ML, Sable DB. Dermatofibrosarcoma protuberans: a report on 29 patients treated by Mohs micrographic surgery with long-term follow-up and review of the literature. Cancer. 2004; 101:28–38.
Article
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